Romeo G, Menozzi P, Ferlini A, Prosperi L, Cerone R, Scalisi S, Romano C, Antonozzi I, Riva E, Piceni Sereni L
Clin Genet. 1983 Nov;24(5):339-45.
As already described for cystic fibrosis and Friedreich ataxia, the incidence of PKU in Italy has been estimated by determining the increase of consanguineous marriages among 178 couples of PKU parents over the frequencies carefully established for the same marriages in the general Italian population for each of the 95 provinces during a 55-year period. The incidence estimated (between 1/15595 and 1/17815 according to two different formulas) is not very different from the incidence derived from screening programs (almost 1/12000). This indicates that the former method can be applied in Italy to the study of the incidence of other autosomal recessive disorders.
正如之前针对囊性纤维化和弗里德赖希共济失调所描述的那样，意大利苯丙酮尿症的发病率是通过确定178对苯丙酮尿症患儿父母之间近亲结婚的增加情况来估算的，该增加情况是在55年期间针对意大利95个省份的普通人群中相同婚姻关系所精心确定的频率之上得出的。根据两种不同公式估算出的发病率（分别为1/15595至1/17815）与筛查项目得出的发病率（近1/12000）并无太大差异。这表明，前一种方法在意大利可用于研究其他常染色体隐性疾病的发病率。
